CLDN14, claudin 14, 23562

N. diseases: 36; N. variants: 17
Disease: Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011053
Disease: Deafness
Deafness 		0.400 Biomarker phenotype CTD_human The essential function of one of these claudins in the inner ear was established by identifying mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large consanguineous Pakistani families. 11163249 2001
CUI: C0011053
Disease: Deafness
Deafness 		0.400 CausalMutation phenotype CLINVAR